Polymorphisms in the leptin (rs7799039) gene are associated with an increased risk of excessive gestational weight gain but not with leptin concentration during pregnancy.

Single nucleotide polymorphisms (SNPs) in leptin (LEP) and leptin receptor (LEPR) have been shown to be linked to obesity-related metabolic markers and phenotype. Therefore, we hypothesized that the LEP-rs7799039 and LEPR-rs1137101 SNPs are related to the risk of pre-pregnancy overweight/obesity (body mass index ≥25 kg/m2) as well as to excessive gestational weight gain (GWG) and high concentrations of leptin throughout pregnancy. We investigated a prospective cohort of 147 Brazilian pregnant women through weeks 5-13, 20-26, and 30-36 of gestation. Genetic variants of LEP and LEPR were analyzed by real-time polymerase chain reaction and leptin by enzyme-linked immunosorbent assay. Statistical analyses included multiple linear regression, linear mixed effects, and Poisson regression models. Genotype AA carriers for the LEP-rs7799039 gene maintained a lower body weight throughout pregnancy compared with those with genotypes GG or GA + GG (βAAvsGG = -7.91 kg; 95% confidence interval [CI], -14.21 to -1.61; P = .01; and βAAvsGA + GG = -7.66 kg; 95% CI, -14.07 to -1.25; P = .02). The A allele was significantly associated with an increased risk for excessive GWG (relative riskLEP-GAvsGG, 2.16; 95% CI, 1.23-3.80; and relative riskLEP-AAvsGG, 2.37; 95% CI, 1.04-5.39). Neither the LEP-rs7799039 nor LEPR-rs1137101 SNP was significantly associated with pre-pregnancy overweight/obesity risk and leptin concentrations during pregnancy. In conclusion, our results indicate that women who had the AA genotype for LEP-rs7799039 displayed a lower body weight throughout pregnancy compared with GG or GA + GG carriers. LEP-rs7799039 was significantly associated with an increased risk for excessive GWG, but the results do not support significant associations of the LEP-rs7799039 and LEPR-rs1137101 polymorphisms with pre-pregnancy overweight/obesity risk and leptin concentrations throughout pregnancy.